Information on PGBMAI
Basic details
Name: Polyglucosan body myopathy, auto-inflammation and immunodeficiency | Acronym: PGBMAI
Alt. names: polyglucosan body myopathy with or without immunodeficiency
Gene: RBCK1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2012
Last updated on: 2023-05-17 17:25:50 by
Description
It is characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013).[source:OMIM]
Management
Description of management option has not been reviewed yet.
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1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
107042 |
F | 216281 | 0 | Definitive | France | PMID:23104095 [Fam.Kindred A:II.2(P1)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Failure to thrive |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Abdominal pain |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 3 | Chronic diarrhea |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 4 | Rectal bleeding |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Hepatomegaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Inflammation of the large intestine |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 7 | Lymphadenitis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 8 | Lymphadenopathy |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 9 | Muscle weakness |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 10 | Neonatal onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 11 | repeated bacterial infections |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 12 | Recurrent fevers |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 13 | Skeletal muscle atrophy |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 14 | Splenomegaly |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 15 | Anemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 16 | Cardiomyopathy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 17 | Cholestasis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 18 | Congestive heart failure |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 19 | Dilated cardiomyopathy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Erythroderma |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 21 | Hepatic fibrosis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Hypoproteinemia |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Infantile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 24 | Leukocytosis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 25 | Metabolic acidosis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 26 | Nail dystrophy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 27 | Neonatal omphalitis |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 28 | Seizures |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 29 | Thin skin |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 30 | Vesicoureteral reflux |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.